Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G210W
Back to variants list

ELANE

NM_001972.4:p.G210W

Associated Papers

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection.

Thanarajasingam U et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."